chr10-90751610-T-C

Position:

• chr10-90751610-T-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000336152.8(HTR7):​c.540-2016A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.619 in 151,936 control chromosomes in the GnomAD database, including 30,910 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.62 (30910 hom., cov: 31)
• Consequence: HTR7 ENST00000336152.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.178

Genes affected

HTR7 (HGNC:5302): (5-hydroxytryptamine receptor 7) The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.857 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
HTR7	NM_019859.4	c.540-2016A>G		intron_variant		ENST00000336152.8	NP_062873.1
HTR7	NM_000872.5	c.540-2016A>G		intron_variant			NP_000863.1
HTR7	NM_019860.4	c.540-2016A>G		intron_variant			NP_062874.1
HTR7	XM_024447973.2	c.-55-2016A>G		intron_variant			XP_024303741.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
HTR7	ENST00000336152.8	c.540-2016A>G		intron_variant		1	NM_019859.4	ENSP00000337949
HTR7	ENST00000277874.10	c.540-2016A>G		intron_variant		1		ENSP00000277874	A1
HTR7	ENST00000371719.2	c.540-2016A>G		intron_variant		1		ENSP00000360784	P4

Frequencies

GnomAD3 genomes AF: 0.619 AC: 93935 AN: 151818 Hom.: 30868 Cov.: 31

Gnomad AFR AF: 0.864

Gnomad AMI AF: 0.495

Gnomad AMR AF: 0.531

Gnomad ASJ AF: 0.517

Gnomad EAS AF: 0.638

Gnomad SAS AF: 0.600

Gnomad FIN AF: 0.519

Gnomad MID AF: 0.551

Gnomad NFE AF: 0.513

Gnomad OTH AF: 0.588

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.619 AC: 94036 AN: 151936 Hom.: 30910 Cov.: 31 AF XY: 0.617 AC XY: 45808 AN XY: 74268

Gnomad4 AFR AF: 0.864

Gnomad4 AMR AF: 0.531

Gnomad4 ASJ AF: 0.517

Gnomad4 EAS AF: 0.639

Gnomad4 SAS AF: 0.600

Gnomad4 FIN AF: 0.519

Gnomad4 NFE AF: 0.513

Gnomad4 OTH AF: 0.587

Alfa AF: 0.564 Hom.: 4300

Bravo AF: 0.630

Asia WGS AF: 0.633 AC: 2202 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	9.1
DANN	Benign	0.84

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs4933194; hg19: chr10-92511367;